Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

doi:10.1038/s41431-025-02001-w

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Article

Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations.

European journal of human genetics : EJHG - 1 Mar 2026

Muto Valentina, Fasano Giulia, Radio Francesca Clementina, Pedalino Catia, Carvetta Mattia, Coppola Simona, Zara Erika, Petrini Stefania, Schluth-Bolard Caroline, Bilbault Claire, El Chehadeh Salima, Gérard Bénédicte, de Saint-Martin Anne, Koboldt Daniel C, Sites Emily, Curry Cynthia, Herget Theresia, Höing Ann-Sophie, von Elsner Leonie, Barr Eileen Elizabeth, Hodoglugil Ugur, Slavotinek Anne, Tartaglia Marco, Lauri Antonella

Abstract excerpt

We recently identified de novo missense variants affecting the small GTPase ARF3 as the cause of a disorder characterized by developmental delay/intellectual disability, microcephaly, brain atrophy, epilepsy and minor skeletal defects. In vitro and in vivo analyses documented impaired Golgi integrity, vesicle trafficking, and brain and body axes development. Here, we report clinical features of five additional...

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Identifiers

PMID: 41507605
DOI: 10.1038/s41431-025-02001-w
PMCID: PMC12963444

Genes

ARF3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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